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Artigo de periodico
Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion (2023)
Montenegro, Marilia Moreira ; Camilotti, Débora; Quaio, Robledo D'angioli Costa ; Gasparini, Yanca; Zanardo, Evelin Aline ; Rangel-Santos, Andreia; Novo-Filho, Gil Monteiro; Francisco, Gleyson; Liro, Lucas; Nascimento, Amom Mendes ; Chehimi, Samar Nasser ; Soares, Diogo Cordeiro Queiroz; Krepischi, Ana Cristina Victorino ; Grassi, Marcília Sierro; Honjo, Rachel Sayuri ; Palmeira, Patricia; Kim, Chong Ae ; Carneiro-Sampaio, Magda Maria Sales ; Rosenberg, Carla ; Kulikowski, Leslie Domenici
Source: The Journal of Pediatrics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DELEÇÃO DE GENES, ANORMALIDADES CONGÊNITAS, DOENÇAS RARAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MONTENEGRO, Marilia Moreira et al. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion. The Journal of Pediatrics, v. 252, n. Ja 2023, p. 56-60, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.jpeds.2022.08.051. Acesso em: 19 nov. 2024.
APA
Montenegro, M. M., Camilotti, D., Quaio, R. D. 'angioli C., Gasparini, Y., Zanardo, E. A., Rangel-Santos, A., et al. (2023). Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion. The Journal of Pediatrics, 252( Ja 2023), 56-60. doi:10.1016/j.jpeds.2022.08.051
NLM
Montenegro MM, Camilotti D, Quaio RD'angioli C, Gasparini Y, Zanardo EA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento AM, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion [Internet]. The Journal of Pediatrics. 2023 ; 252( Ja 2023): 56-60.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.jpeds.2022.08.051
Vancouver
Montenegro MM, Camilotti D, Quaio RD'angioli C, Gasparini Y, Zanardo EA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento AM, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion [Internet]. The Journal of Pediatrics. 2023 ; 252( Ja 2023): 56-60.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.jpeds.2022.08.051
Artigo de periodico
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023)
Lazzaro Filho, Ricardo Di; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D. W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae ; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe M; Warma, Matthew; Passos-Bueno, Maria Rita ; Hoch, Nicolas Carlos ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Subjects: GENÉTICA MÉDICA, ANÁLISE DE SEQUÊNCIA DE DNA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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LAZZARO FILHO, Ricardo Di et al. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, 2023Tradução . . Disponível em: https://doi.org/10.1136/jmg-2022-109119. Acesso em: 19 nov. 2024.
APA
Lazzaro Filho, R. D., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. A. A., et al. (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics. doi:10.1136/jmg-2022-109119
NLM
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Vancouver
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Artigo de periodico
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants (2023)
Chaves, Luiza D; Carvalho, Laura M. L; Tolezano, Giovanna C; Pires, Sara F; Costa, Silvia S; Scliar, Marília O. de; Giuliani, Liane de R; Bertola, Débora Romeo ; Santos-Rebouças, Cíntia B; Seo, Go Hun; Otto, Paulo A ; Rosenberg, Carla ; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidade: IB
Subjects: MULHERES, CROMOSSOMO X, RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CHAVES, Luiza D et al. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, v. 60, p. 3758–3769, 2023Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03311-0. Acesso em: 19 nov. 2024.
APA
Chaves, L. D., Carvalho, L. M. L., Tolezano, G. C., Pires, S. F., Costa, S. S., Scliar, M. O. de, et al. (2023). Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, 60, 3758–3769. doi:10.1007/s12035-023-03311-0
NLM
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Vancouver
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Artigo de periodico
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome (2023)
Carvalho, Laura Machado Lara; Branco, Elisa Varella ; Sarafian, Raquel Delgado ; Kobayashi, Gerson Shigeru ; Araújo, Fabiano Tófoli de; Souza, Lucas Santos ; Moreira, Danielle de Paula; Hsia, Gabriella Shih Ping ; Bertollo, Eny Maria Goloni; Buck, Cecília Barbosa; Costa, Silvia Souza da; Fialho, Davi Mendes; Vasconcelos, Felipe Tadeu Galante Rocha de; Brito, Luciano Abreu; Machado, Luciana Elena de Souza Fraga; Ramos, Igor Cabreira; Pereira, Lygia da Veiga ; Koiffmann, Celia Priszkulnik ; Passos-Bueno, Maria Rita ; Mendes, Tiago Antonio de Oliveira; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Gene. Unidades: IB, BIOTECNOLOGIA, IQ
Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CARVALHO, Laura Machado Lara et al. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, v. 871, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.gene.2023.147424. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., Branco, E. V., Sarafian, R. D., Kobayashi, G. S., Araújo, F. T. de, Souza, L. S., et al. (2023). Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, 871. doi:10.1016/j.gene.2023.147424
NLM
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
Vancouver
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
Artigo de periodico
Updated consensus guidelines on the management of Phelan–McDermid syndrome (2023)
Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D ; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey ; Bernstein, Jonathan A ; Asante-Otoo, Afua; Bennett Jr, William E; Betancur, Catalina ; Brickhouse, Tegwyn H; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: GENÉTICA MÉDICA, NEUROGENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SRIVASTAVA, Siddharth et al. Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, v. 191, n. 8, p. 2015-2044, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63312. Acesso em: 19 nov. 2024.
APA
Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., et al. (2023). Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, 191( 8), 2015-2044. doi:10.1002/ajmg.a.63312
NLM
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Vancouver
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Artigo de periodico
Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport (2022)
Moreira, Danielle de Paula; Suzuki, Angela May; Silva, André Luiz Teles e; Varella-Branco, Elisa; Meneghetti, Maria Cecília Zorél; Kobayashi, Gerson Shigeru ; Fogo, Mariana; Ferrari, Merari de Fátima Ramires ; Cardoso, Rafaela Regina; Lourenço, Naila Cristina Vilaça ; Griesi-Oliveira, Karina; Zachi, Elaine Cristina; Bertola, Débora Romeo; Weinmann, Karina de Souza; Lima, Marcelo Andrade de; Nader, Helena Bonciani; Sertié, Andrea Laurato; Passos-Bueno, Maria Rita
Source: Frontiers in Plant Science. Unidades: IB, IP
Subjects: NEUROBIOLOGIA, GENÉTICA MÉDICA, DOENÇAS CEREBRAIS
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ABNT
MOREIRA, Danielle de Paula et al. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.3389/fncel.2021.803302. Acesso em: 19 nov. 2024.
APA
Moreira, D. de P., Suzuki, A. M., Silva, A. L. T. e, Varella-Branco, E., Meneghetti, M. C. Z., Kobayashi, G. S., et al. (2022). Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, 12. doi:10.3389/fncel.2021.803302
NLM
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 nov. 19 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Vancouver
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 nov. 19 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Apresentacao sonora/cenica/entrevista
Mayana Zatz [Entrevista ao Roda Viva] (2022)
Zatz, Mayana
Source: TV Cultura. Programa Roda Viva. Unidade: IB
Subjects: INFECÇÕES POR CORONAVIRUS, GENÉTICA MÉDICA, IMUNOGENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZATZ, Mayana. Mayana Zatz [Entrevista ao Roda Viva]. TV Cultura. Programa Roda Viva. São Paulo: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://www.youtube.com/watch?v=vjR0JkShpDo. Acesso em: 19 nov. 2024. , 2022
APA
Zatz, M. (2022). Mayana Zatz [Entrevista ao Roda Viva]. TV Cultura. Programa Roda Viva. São Paulo: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://www.youtube.com/watch?v=vjR0JkShpDo
NLM
Zatz M. Mayana Zatz [Entrevista ao Roda Viva] [Internet]. TV Cultura. Programa Roda Viva. 2022 ;(31 ja 2022):[citado 2024 nov. 19 ] Available from: https://www.youtube.com/watch?v=vjR0JkShpDo
Vancouver
Zatz M. Mayana Zatz [Entrevista ao Roda Viva] [Internet]. TV Cultura. Programa Roda Viva. 2022 ;(31 ja 2022):[citado 2024 nov. 19 ] Available from: https://www.youtube.com/watch?v=vjR0JkShpDo
Artigo de periodico
The 90 plus: longevity and COVID-19 survival (2022)
Zatz, Mayana ; Silva, Monize V. R ; Castro, Mateus V. de ; Naslavsky, Michel
Source: Molecular Psychiatry. Unidade: IB
Subjects: LONGEVIDADE, ENVELHECIMENTO DA POPULAÇÃO, GENÉTICA MÉDICA, SAÚDE DO IDOSO, COVID-19
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ABNT
ZATZ, Mayana et al. The 90 plus: longevity and COVID-19 survival. Molecular Psychiatry, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41380-022-01461-6. Acesso em: 19 nov. 2024.
APA
Zatz, M., Silva, M. V. R., Castro, M. V. de, & Naslavsky, M. (2022). The 90 plus: longevity and COVID-19 survival. Molecular Psychiatry. doi:10.1038/s41380-022-01461-6
NLM
Zatz M, Silva MVR, Castro MV de, Naslavsky M. The 90 plus: longevity and COVID-19 survival [Internet]. Molecular Psychiatry. 2022 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41380-022-01461-6
Vancouver
Zatz M, Silva MVR, Castro MV de, Naslavsky M. The 90 plus: longevity and COVID-19 survival [Internet]. Molecular Psychiatry. 2022 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41380-022-01461-6
Artigo de periodico
Nemaline myopathy in Brazilian patients: molecular and clinical characterization (2022)
Gurgel-Giannetti, Juliana; Souza, Lucas Santos; Yamamoto, Guilherme L ; Belisario, Marina; Lazar, Monize; Campos, Wilson; Pavanello, Rita de Cassia M; Zatz, Mayana ; Reed, Umbertina Conti ; Zanoteli, Edmar ; Oliveira, Acary Bulle; Lehtokari, Vilma-Lotta; Casella, Erasmo B; Machado-Costa, Marcela C; Wallgren-Pettersson, Carina; Laing, Nigel G; Nigro, Vincenzo; Vainzof, Mariz
Source: International Journal of Molecular Sciences. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS NEUROMUSCULARES, NEUROLOGIA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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ABNT
GURGEL-GIANNETTI, Juliana et al. Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, v. 23, n. 19, 2022Tradução . . Disponível em: https://doi.org/10.3390/ijms231911995. Acesso em: 19 nov. 2024.
APA
Gurgel-Giannetti, J., Souza, L. S., Yamamoto, G. L., Belisario, M., Lazar, M., Campos, W., et al. (2022). Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, 23( 19). doi:10.3390/ijms231911995
NLM
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira AB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2024 nov. 19 ] Available from: https://doi.org/10.3390/ijms231911995
Vancouver
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira AB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2024 nov. 19 ] Available from: https://doi.org/10.3390/ijms231911995
Artigo de periodico-carta/editorial
Muscle regeneration in spastic muscles of children with cerebral palsy (2021)
Vainzof, Mariz ; Gurgel-Giannetti, Juliana
Source: Developmental Medicine and Child Neurology. Unidade: IB
Subjects: PARALISIA CEREBRAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VAINZOF, Mariz e GURGEL-GIANNETTI, Juliana. Muscle regeneration in spastic muscles of children with cerebral palsy. Developmental Medicine and Child Neurology. West Sussex: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/dmcn.14953. Acesso em: 19 nov. 2024. , 2021
APA
Vainzof, M., & Gurgel-Giannetti, J. (2021). Muscle regeneration in spastic muscles of children with cerebral palsy. Developmental Medicine and Child Neurology. West Sussex: Instituto de Biociências, Universidade de São Paulo. doi:10.1111/dmcn.14953
NLM
Vainzof M, Gurgel-Giannetti J. Muscle regeneration in spastic muscles of children with cerebral palsy [Internet]. Developmental Medicine and Child Neurology. 2021 ;( Ju 2021):[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/dmcn.14953
Vancouver
Vainzof M, Gurgel-Giannetti J. Muscle regeneration in spastic muscles of children with cerebral palsy [Internet]. Developmental Medicine and Child Neurology. 2021 ;( Ju 2021):[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/dmcn.14953
Artigo de periodico
Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
Rocha, Letícia Alves da ; Pires, Lucas Vieira Lacerda ; Yamamoto, Guilherme Lopes ; Ceroni, José Ricardo Magliocco; Honjo, Rachel Sayuri; França Bisneto, Edgard de Novaes; Oliveira, Luiz Antônio Nunes; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Passos-Bueno, Maria Rita ; Kim, Chong Ae ; Bertola, Débora Romeo
Source: Clinical Genetics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS CONGÊNITAS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROCHA, Letícia Alves da et al. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, p. 615-623, 2021Tradução . . Disponível em: https://doi.org/10.1111/cge.14041. Acesso em: 19 nov. 2024.
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/cge.14041
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/cge.14041
Artigo de periodico
Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways (2021)
Barros, Juliana Sobral; Aguiar, Talita Ferreira Marques; Costa, Silvia Souza; Rivas, Maria Prates ; Cypriano, Monica; Toledo, Silvia Regina Caminada; Novak, Estela Maria ; Odone, Vicente; Cristofani, Lilian Maria; Carraro, Dirce Maria; Cunha, Isabela Werneck da; Costa, Cecília Maria Lima; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Source: Frontiers in Plant Science. Unidades: IB, FM
Subjects: NEOPLASIAS HEPÁTICAS, GENÉTICA MÉDICA, CITOGENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BARROS, Juliana Sobral et al. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways. Frontiers in Plant Science, v. 11, 2021Tradução . . Disponível em: https://doi.org/10.3389/fonc.2021.741526. Acesso em: 19 nov. 2024.
APA
Barros, J. S., Aguiar, T. F. M., Costa, S. S., Rivas, M. P., Cypriano, M., Toledo, S. R. C., et al. (2021). Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways. Frontiers in Plant Science, 11. doi:10.3389/fonc.2021.741526
NLM
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Cunha IW da, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways [Internet]. Frontiers in Plant Science. 2021 ; 11[citado 2024 nov. 19 ] Available from: https://doi.org/10.3389/fonc.2021.741526
Vancouver
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Cunha IW da, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways [Internet]. Frontiers in Plant Science. 2021 ; 11[citado 2024 nov. 19 ] Available from: https://doi.org/10.3389/fonc.2021.741526
Artigo de periodico
Concurrent X chromosome inactivation and upregulation during non-human primate preimplantation development revealed by single-cell RNA-sequencing (2021)
Cidral, Ana Luíza; Mello, Joana C. Moreira de; Gribnau, Joost; Pereira, Lygia da Veiga
Source: Scientific Reports. Unidades: IB, BIOTECNOLOGIA
Subjects: CROMOSSOMO X, SEQUENCIAMENTO GENÉTICO, EMBRIÃO, GENÉTICA MÉDICA, EPIGÊNESE GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CIDRAL, Ana Luíza et al. Concurrent X chromosome inactivation and upregulation during non-human primate preimplantation development revealed by single-cell RNA-sequencing. Scientific Reports, v. 11, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41598-021-89175-7. Acesso em: 19 nov. 2024.
APA
Cidral, A. L., Mello, J. C. M. de, Gribnau, J., & Pereira, L. da V. (2021). Concurrent X chromosome inactivation and upregulation during non-human primate preimplantation development revealed by single-cell RNA-sequencing. Scientific Reports, 11. doi:10.1038/s41598-021-89175-7
NLM
Cidral AL, Mello JCM de, Gribnau J, Pereira L da V. Concurrent X chromosome inactivation and upregulation during non-human primate preimplantation development revealed by single-cell RNA-sequencing [Internet]. Scientific Reports. 2021 ; 11[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41598-021-89175-7
Vancouver
Cidral AL, Mello JCM de, Gribnau J, Pereira L da V. Concurrent X chromosome inactivation and upregulation during non-human primate preimplantation development revealed by single-cell RNA-sequencing [Internet]. Scientific Reports. 2021 ; 11[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41598-021-89175-7
Artigo de periodico
Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs (2021)
Tavares, Vanessa Luiza Romanelli; Monfardini, Frederico; Lourenço, Naila Cristina Vilaça; Rocha, Katia Maria da; Weinmann, Karina; Pavanello, Rita; Zatz, Mayana
Source: International Journal of Neonatal Screening. Unidades: IB, BIOINFORMÁTICA
Subjects: DOENÇAS NEUROMUSCULARES, ATROFIA MUSCULAR, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TAVARES, Vanessa Luiza Romanelli et al. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs. International Journal of Neonatal Screening, v. 7, n. 3, 2021Tradução . . Disponível em: https://doi.org/10.3390/ijns7030053. Acesso em: 19 nov. 2024.
APA
Tavares, V. L. R., Monfardini, F., Lourenço, N. C. V., Rocha, K. M. da, Weinmann, K., Pavanello, R., & Zatz, M. (2021). Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs. International Journal of Neonatal Screening, 7( 3). doi:10.3390/ijns7030053
NLM
Tavares VLR, Monfardini F, Lourenço NCV, Rocha KM da, Weinmann K, Pavanello R, Zatz M. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs [Internet]. International Journal of Neonatal Screening. 2021 ; 7( 3):[citado 2024 nov. 19 ] Available from: https://doi.org/10.3390/ijns7030053
Vancouver
Tavares VLR, Monfardini F, Lourenço NCV, Rocha KM da, Weinmann K, Pavanello R, Zatz M. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs [Internet]. International Journal of Neonatal Screening. 2021 ; 7( 3):[citado 2024 nov. 19 ] Available from: https://doi.org/10.3390/ijns7030053
Artigo de periodico-carta/editorial
Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021)
Andreakos, Evangelos ; Abel, Laurent ; Vinh, Donald C. ; Kaja, Elzbieta ; Drolet, Beth A. ; Zhang, Qian ; O\2019Farrelly, Cliona ; Novelli, Giuseppe ; Gallego, Carlos Rodríguez ; Haerynck, Filomeen ; Prando, Carolina ; Pujol, Aurora ; Condino Neto, Antonio ; Su, Helen C. ; Casanova, Jean-Laurent ; Spaan, András N. ; Zatz, Mayana
Source: Nature Immunology. Unidades: ICB, IB
Subjects: IMUNOLOGIA, INFECÇÕES POR CORONAVIRUS, CORONAVIRUS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANDREAKOS, Evangelos et al. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology. New York: Instituto de Ciências Biomédicas, Universidade de São Paulo. Disponível em: https://doi.org/10.1038/s41590-021-01096-9. Acesso em: 19 nov. 2024. , 2021
APA
Andreakos, E., Abel, L., Vinh, D. C., Kaja, E., Drolet, B. A., Zhang, Q., et al. (2021). Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology. New York: Instituto de Ciências Biomédicas, Universidade de São Paulo. doi:10.1038/s41590-021-01096-9
NLM
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Su HC, Casanova J-L, Spaan AN, Zatz M. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ;1 .[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41590-021-01096-9
Vancouver
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Su HC, Casanova J-L, Spaan AN, Zatz M. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ;1 .[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41590-021-01096-9
Artigo de periodico
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021)
Andreakos, Evangelos ; Abel, Laurent ; Vinh, Donald C. ; Kaja, Elzbieta ; Drolet, Beth A. ; Zhang, Qian ; O\2019Farrelly, Cliona ; Novelli, Giuseppe ; Gallego, Carlos Rodríguez ; Haerynck, Filomeen ; Prando, Carolina ; Pujol, Aurora ; Condino Neto, Antonio ; Zatz, Mayana
Source: Nature Immunology. Unidades: ICB, IB
Subjects: IMUNOLOGIA, INFECÇÕES POR CORONAVIRUS, GENÉTICA MÉDICA, INTERFERON TIPO I, QUIMIOCINAS, PLASMODIUM
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANDREAKOS, Evangelos et al. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology, p. 1-6, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41590-021-01030-z. Acesso em: 19 nov. 2024.
APA
Andreakos, E., Abel, L., Vinh, D. C., Kaja, E., Drolet, B. A., Zhang, Q., et al. (2021). A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology, 1-6. doi:10.1038/s41590-021-01030-z
NLM
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Zatz M. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ; 1-6.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41590-021-01030-z
Vancouver
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Zatz M. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ; 1-6.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41590-021-01030-z
Artigo de periodico
A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review (2021)
Carvalho, Laura M. L; D’Angelo, Carla S; Mustacchi, Zan; Silva, Israel T. da; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: Obesity Research & Clinical Practice. Unidade: IB
Subjects: GENÉTICA MÉDICA, OBESIDADE, RETARDO MENTAL, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CARVALHO, Laura M. L et al. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, v. 15, n. 2, p. Mar./Apr. 124-132, 2021Tradução . . Disponível em: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., D’Angelo, C. S., Mustacchi, Z., Silva, I. T. da, Krepischi, A. C. V., Koiffmann, C. P., & Rosenberg, C. (2021). A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, 15( 2), Mar./Apr. 124-132. Recuperado de https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
NLM
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 nov. 19 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
Vancouver
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 nov. 19 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
Artigo de periodico
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation (2020)
Guerra, João V.S; Oliveira-Santos, José; Oliveira, Danyllo F ; Leal, Gabriela F.; Oliveira, João Ricardo M.; Costa, Sílvia S; Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M ; Maschietto, Mariana
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, PESSOAS COM DEFICIÊNCIA INTELECTUAL, METILAÇÃO DE DNA, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUERRA, João V.S et al. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, v. 63, n. 3, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2019.103737. Acesso em: 19 nov. 2024.
APA
Guerra, J. V. S., Oliveira-Santos, J., Oliveira, D. F., Leal, G. F., Oliveira, J. R. M., Costa, S. S., et al. (2020). DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, 63( 3). doi:10.1016/j.ejmg.2019.103737
NLM
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2019.103737
Vancouver
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2019.103737
Artigo de periodico
Mitochondria-ER tethering in neurodegenerative diseases (2020)
Raeisossadati, Reza ; Ferrari, Merari de Fátima Ramires
Source: Cellular and Molecular Neurobiology. Unidade: IB
Subjects: DOENÇAS NEURODEGENERATIVAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RAEISOSSADATI, Reza e FERRARI, Merari de Fátima Ramires. Mitochondria-ER tethering in neurodegenerative diseases. Cellular and Molecular Neurobiology, 2020Tradução . . Disponível em: https://doi.org/10.1007/s10571-020-01008-9. Acesso em: 19 nov. 2024.
APA
Raeisossadati, R., & Ferrari, M. de F. R. (2020). Mitochondria-ER tethering in neurodegenerative diseases. Cellular and Molecular Neurobiology. doi:10.1007/s10571-020-01008-9
NLM
Raeisossadati R, Ferrari M de FR. Mitochondria-ER tethering in neurodegenerative diseases [Internet]. Cellular and Molecular Neurobiology. 2020 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10571-020-01008-9
Vancouver
Raeisossadati R, Ferrari M de FR. Mitochondria-ER tethering in neurodegenerative diseases [Internet]. Cellular and Molecular Neurobiology. 2020 ;[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10571-020-01008-9
Apresentacao sonora/cenica/entrevista
O impacto da tecnologia e da inteligência artificial na medicina e nas artes [Entrevista] (2020)
Naslavsky, Michel
Source: DocTalks: Diálogos sobre medicina e arte. Unidade: IB
Subjects: GENÉTICA MÉDICA, TECNOLOGIA, ARTE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NASLAVSKY, Michel. O impacto da tecnologia e da inteligência artificial na medicina e nas artes [Entrevista]. DocTalks: Diálogos sobre medicina e arte. São Paulo: Fleury. Disponível em: https://open.spotify.com/episode/7b9JYTZTqB8ZC7tjF15Di1?si=W5nnWUwjQ0eOFXeIwW9d3Q. Acesso em: 19 nov. 2024. , 2020
APA
Naslavsky, M. (2020). O impacto da tecnologia e da inteligência artificial na medicina e nas artes [Entrevista]. DocTalks: Diálogos sobre medicina e arte. São Paulo: Fleury. Recuperado de https://open.spotify.com/episode/7b9JYTZTqB8ZC7tjF15Di1?si=W5nnWUwjQ0eOFXeIwW9d3Q
NLM
Naslavsky M. O impacto da tecnologia e da inteligência artificial na medicina e nas artes [Entrevista] [Internet]. DocTalks: Diálogos sobre medicina e arte. 2020 ;4 fe 2020[citado 2024 nov. 19 ] Available from: https://open.spotify.com/episode/7b9JYTZTqB8ZC7tjF15Di1?si=W5nnWUwjQ0eOFXeIwW9d3Q
Vancouver
Naslavsky M. O impacto da tecnologia e da inteligência artificial na medicina e nas artes [Entrevista] [Internet]. DocTalks: Diálogos sobre medicina e arte. 2020 ;4 fe 2020[citado 2024 nov. 19 ] Available from: https://open.spotify.com/episode/7b9JYTZTqB8ZC7tjF15Di1?si=W5nnWUwjQ0eOFXeIwW9d3Q

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